Wayne State University School of Medicine Detroit, MI
Introduction: Pyruvate Kinase Deficiency (PKD) is a rare autosomal recessive enzymatic disorder resulting in red blood cell ATP deficiency. The faulty glycolytic pathway commonly manifests as nonspherocytic hemolytic anemia and iron overload. Splenectomy typically increases hemoglobin and may reduce transfusion frequency. However, the risk of venous thrombotic events post-splenectomy is 10% in patients with PKD.1 Currently, there is little information available on patients with PKD and recurrent thrombosis post-splenectomy.
Case Description/Methods: We present a case of a 25 y.o. male with PKD S/P splenectomy (2001) experiencing RUQ abdominal pain in 2015. MRI revealed iron overload and a thrombus at the junction of the superior mesenteric vein (SMV) and the portal vein. Scleral icterus was present and the liver was non-enlarged with normal contour. Labs showed mildly elevated liver enzymes (AST 39, ALT 71, Total Bilirubin 4.4). Patient was placed on enoxaparin; however, enoxaparin was stopped due to an upper GI bleed. Nine months later, the patient presented with a recurrent SMV thrombus with edematous small and large bowels. Hypercoagulation studies were negative. Patient was given IV pantoprazole and octreotide. IV heparin was initiated but stopped due to acute hematemesis. The patient was bridged to coumadin and checks INR weekly.
Discussion: To our knowledge, only two PKD case reports have detailed recurrent thrombotic events post-splenectomy. Patient A received a splenectomy at age 20 with two episodes of portal vein thrombosis at 6 days and 2 years post-splenectomy.2 Patient B received a splenectomy at age 1 with two episodes of pulmonary thromboembolism at 29 and 36 years post-splenectomy.3 This case is unique since our patient experienced two recurrent episodes of venous thrombosis involving the SMV. Our patient received a splenectomy at age 5 with thrombotic events at 13 and 14 years post-splenectomy. Although the etiology remains unclear, chronic anticoagulation and screening for thrombocytosis is essential to improving patient prognosis.
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Chou R, DeLoughery TG. Recurrent thromboembolic disease following splenectomy for pyruvate kinase deficiency. Am J Hematol. 2001;67(3):197-199.
